NDUFA12 - NADH:ubiquinone oxidoreductase subunit A12 Gene

中文名称：NADH：泛醌氧化还原酶亚基 A12

种属: Homo sapiens

同用名: B17.2; DAP13; MC1DN23

基因 ID: 55967 | 基因类型: protein coding

关于 NDUFA12

Cytogenetic location: 12q22 Genomic coordinates (GRCh38): 12:94,971,333-95,003,697 (from NCBI)

This gene has 13 transcripts (splice variants), 218 orthologues and is associated with 3 phenotypes. Ubiquitous expression in heart (RPKM 72.7), colon (RPKM 50.9) and 25 other tissues.

功能概要

该基因编码的蛋白质是线粒体复合物 1 的一部分，是线粒体氧化磷酸化系统的一部分。复合物 1 将电子从 NADH 转移到泛醌，为生成 ATP 建立质子梯度。由于线粒体复合物 1 缺陷，该基因的突变与 Leigh 综合征有关。该基因的假基因位于 5 号和 13 号染色体上。可变剪接导致多个转录变体。[RefSeq 提供，2012 年 4 月]

This gene encodes a protein which is part of mitochondrial complex 1, part of the Oxidative Phosphorylation system in mitochondria. Complex 1 transfers electrons to ubiquinone from NADH which establishes a proton gradient for the generation of ATP. Mutations in this gene are associated with Leigh syndrome due to mitochondrial complex 1 deficiency. Pseudogenes of this gene are located on chromosomes 5 and 13. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2012]

NDUFA12 基因产物(2)

mRNA	Protein	Name
NM_001258338.2	NP_001245267.1	NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 12 isoform b
NM_018838.5	NP_061326.1	NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 12 isoform a

基因本体论

分子功能
生物过程
细胞组分

分子功能 GO 注释	逻辑证据	参考文献	来源
enables protein binding	IPI IPI: 通过物理相互作用推断	32296183	GOA

生物过程 GO 注释	逻辑证据	参考文献	来源
involved in mitochondrial ATP synthesis coupled electron transport	IMP IMP: 通过突变表型推断	24746669	GOA

细胞组分 GO 注释	逻辑证据	参考文献	来源
located in mitochondrial inner membrane	IDA IDA: 通过直接分析推断	28844695	GOA
part of respiratory chain complex I	IDA IDA: 通过直接分析推断	12611891	GOA
part of respiratory chain complex I	IMP IMP: 通过突变表型推断	24746669	GOA

EXP：通过实验结果推断 IDA：通过直接分析推断 IPI：通过物理相互作用推断 IMP：通过突变表型推断 IGI：通过遗传相互作用推断 IEP：通过表达模式推断

NDUFA12 蛋白结构

NDUFA12

0
100
145 a.a.

蛋白主名

其他名称

NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 12

13 kDa differentiation-associated protein

关联疾病

疾病名称

别名

Mitochondrial Complex I Deficiency, Nuclear Type 23

MC1DN23	Mitochondrial Complex 1 Deficiency, Nuclear Type 23
Nuclear Type Mitochondrial Complex I Deficiency 23

Leigh Syndrome With Leukodystrophy

Infantile Subacute Necrotizing Encephalopathy With Leukodystrophy

Leigh Disease With Leukodystrophy

Leigh Syndrome

Leigh Disease	Infantile Subacute Necrotizing Encephalopathy
Leigh Syndrome Due To Mitochondrial Complex Iv Deficiency	LS
Sne	Leigh'S Disease
Leigh Syndrome Due To Mitochondrial Complex I Deficiency	Necrotizing Encephalopathy, Infantile Subacute, Of Leigh
Subacute Necrotizing Encephalomyelopathy	Necrotizing Encephalopathy Infantile Subacute Of Leigh
Leigh Syndrome Due To Mitochondrial Complex Iii Deficiency	Infantile Necrotizing Encephalomyelopathy
Juvenile Subacute Necrotizing Encephalomyelopathy	Leigh'S Necrotizing Encephalopathy
Subacute Necrotizing Encephalopathy	Juvenile Subacute Necrotizing Encephalopathy
Leigh Syndrome Due To Mitochondrial Complex Ii Deficiency	Leigh Syndrome Due To Mitochondrial Complex V Deficiency
Encephalopathy, Subacute Necrotizing, Infantile	Encephalopathy, Subacute Necrotizing, Juvenile
Maternally Inherited Leigh Syndrome	Subacute Necrotising Encephalomyelopathy
Subacute Necrotising Encephalopathy

Mitochondrial Complex I Deficiency, Nuclear Type 1

Mitochondrial Complex I Deficiency	Nadh:Q(1) Oxidoreductase Deficiency
MC1DN1	Nadh-Coenzyme Q Reductase Deficiency
Isolated Mitochondrial Respiratory Chain Complex I Deficiency	Isolated Nadh-Coenzyme Q Reductase Deficiency
Isolated Nadh-Coq Reductase Deficiency	Isolated Nadh-Ubiquinone Reductase Deficiency
Mitochondrial Nadh Dehydrogenase Component Of Complex I, Deficiency Of	Nuclear Type Mitochondrial Complex I Deficiency 1
Isolated Complex I Deficiency	Complex 1 Mitochondrial Respiratory Chain Deficiency
Nadh Coenzyme Q Reductase Deficiency	Complex I Mitochondrial Respiratory Chain Deficiency
Deficiency Of Mitochondrial Nadh Dehydrogenase Component Of Complex I	Nadh:Ubiquinone Oxidoreductase Deficiency
Complex I, Mitochondrial Respiratory Chain, Deficiency Of

Placenta Praevia

Placenta Previa	Haemorrhage From Placenta Previa
Placenta Previa Haemorrhage	Lateral Placenta
Low Implantation Of Placenta Nos Or With Haemorrhage	Total Placenta Previa
Total Placenta Praevia Nos Or With Haemorrhage	Placental Previa Haemorrhage
Pp - [Placenta Previa]	Placenta Previa Marginalis
Placenta Previa Partialis	Partial Placenta Previa
Placenta Previa Centralis	Low Implantation Of Placenta
Low Implantation Or Insertion Of Placenta	Low Insertion Of Placenta
Low Lying Placenta	Marginal Placenta
Marginal Placenta Praevia Nos Or With Haemorrhage	Marginal Placenta Previa
Marginal Placental Haemorrhage	Partial Placenta Praevia Nos Or With Haemorrhage

Retinal Arteries, Tortuosity Of

Retinal Arterial Tortuosity	Retinal Hemorrhage With Vascular Tortuosity
RATOR	Tortuosity Of Retinal Arteries
Retinal Arteriolar Tortuosity	Familial Isolated Retinal Arterial Tortuosity
Tortuosity, Arteries, Retinal

Leukodystrophy

Leukodystrophies

Myopathy

Muscular Diseases

Myopathies

疾病名称	别名
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Cat. No.	产品名	作用方式	纯度	是否罕见病
HY-RS09125	NDUFA12 Human Pre-designed siRNA Set A	Pre-designed Set	/	否

直系同源

种属	基因名	来源	基因 ID
Bos taurus	NDUFA12	VGNC	VGNC:31945
Rattus norvegicus	NDUFA12	RGD	RGD:1311462
Canis familiaris	NDUFA12	VGNC	VGNC:43685
Mus musculus	NDUFA12	MGD	MGI:1913664

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站点地图隐私声明

沪ICP备15051369号-4

上海工商

沪公网安备31011502019417

沪(浦)应急管危经许[2021]201709(QFYS)

营业执照（三证合一）

NDUFA12 - NADH:ubiquinone oxidoreductase subunit A12 Gene

关于 NDUFA12

功能概要

NDUFA12 基因产物(2)

NDUFA12 蛋白结构

关联疾病

直系同源

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NDUFA12 - NADH:ubiquinone oxidoreductase subunit A12 Gene

关于 NDUFA12

功能概要

NDUFA12 基因产物(2)

NDUFA12 蛋白结构

关联疾病

相关产品

直系同源

热门区域

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B

C

F

G

H

J

L

N

Q

S

T

X

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